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June 4, 1955


JAMA. 1955;158(5):402-403. doi:10.1001/jama.1955.02960050044010

Hepatolenticular degeneration (Wilson's disease) is a progressive disease of early life characterized by cirrhosis of the liver, degenerative changes in the basal ganglions, and the presence of Kayser-Fleischer rings in the cornea. It was first described as a disease entity in 1912 by Kinnier Wilson, who suggested that the neurological manifestations might be due to a toxic substance elaborated in the diseased liver.1 In recent years, defects in copper metabolism and urinary chemical abnormalities have been recognized in this disease. These findings have lent support to the hypothesis that the disorder is due to an inborn error of metabolism, a viewpoint supported by recent genetic studies indicating the disease is inherited in an autosomal recessive manner.2

While sporadic reports of abnormal tissue accumulation of copper in hepatolenticular degeneration had appeared since 1913, the possible role of copper in this disorder attracted little attention until 1948, when reports of